Canonical Allele Identifier: CA2668691415

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713323-CAGCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713325_181713329del , CM000665.2:g.181713325_181713329del	GRCh38
NC_000003.11:g.181431113_181431117del , CM000665.1:g.181431113_181431117del	GRCh37
NC_000003.10:g.182913807_182913811del	NCBI36
NG_009080.1:g.6392_6396del , LRG_719:g.6392_6396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*11_*15del (SOX2) MANE Select	ENSP00000323588.1:n.*11_*15del
ENST00000325404.2:c.*11_*15del (SOX2)	ENSP00000323588.1:n.*11_*15del
NM_003106.3:c.*11_*15del (SOX2)	NP_003097.1:n.*11_*15del
NR_004053.3:n.768-1860_768-1856del (SOX2-OT)
NR_075089.1:n.767+13442_767+13446del (SOX2-OT)
NR_075090.1:n.482-26244_482-26240del (SOX2-OT)
NR_075091.1:n.783-1860_783-1856del (SOX2-OT)
NR_075092.1:n.782+13442_782+13446del (SOX2-OT)
NR_075093.1:n.473-26244_473-26240del (SOX2-OT)
NM_003106.4:c.*11_*15del (SOX2) MANE Select	NP_003097.1:n.*11_*15del